Varaico: Literature-Extracted Genetic Variants

Gene:PISD

PISD

24 papers

RefSeq Summary

The protein encoded by this gene catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolis...

Pfam Domains

PS_Dcarbxylaseaa 165–408UCSCPhosphatidylserine decarboxylase

Gene Aliases

HGNC Name

phosphatidylserine decarboxylase

HGNC Alias Symbols

dJ858B16.2; PSDC

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
5 papers
NM_001326411.2
p.R277Q
c.830G>A
3 papers
NM_014338.4
p.C266Y
c.797G>A
3 papers
NM_014338.4
p.W277*
c.830G>A
2 papers
NM_001326411.2
p.A233Splc
c.697+5G>A
1 paper
NM_001326411.2
p.G15G
c.45G>A
1 paper
NM_001326411.2
p.P42H
c.125C>A
1 paper
NM_001326411.2
p.F43C
c.128T>G
1 paper
NM_001326411.2
p.R59*
c.175C>T
1 paper
NM_001326411.2
p.G79G
c.237G>C
1 paper
NM_001326411.2
p.S190L
c.569C>T
1 paper
NM_001326411.2
p.E206G
c.617A>G
1 paper
NM_178022.2
p.A199Splc
c.595+5G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."